A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5470170



Internal ID247939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:7756302..7767265hg38UCSC Ensembl
chr6:7756535..7767498hg19UCSC Ensembl
Cytoband6p24.3
Allele length
AssemblyAllele length
hg3810964
hg1910964
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16979989
Samples
Known GenesBMP6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5470170
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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